2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

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This document discusses the GenCC (Genetic Variant Classification and Standards) database and how it resolves conflicts in genetic variant classifications. The GenCC database contains assertions about the relationship between genes and diseases, categorized as definitive, strong, moderate, limited, disputed, refuted, no known disease relationship, or animal model only. The database identifies conflicts between different assertions and resolves them through a manual review process.<br /><br />The conflicts in the GenCC database can be simple or complex. Simple conflicts, such as disagreements between submissions, are sent as conflict reports to the respective submitters. Complex conflicts require discussion with the GenCC membership, and the resolution is determined by a vote.<br /><br />The document provides a table showing examples of gene-disease associations with their mode of inheritance (MOI) and classification level. The classifications range from moderate or above to limited or below. The genes mentioned in the table include AARS1, ALG2, BRIP1, CAMK2G, CCDC50, CD320, CDK5, ENTPD1, GRIA4, HAAO, HCN4, IRX5, KIF1B, MYO9A, NODAL, PLEKHG2, PLIN1, PRDM16, ROR1, SLC26A5, and TNPO3.<br /><br />The document also includes a screenshot from the GenCC database, demonstrating a complex conflict. In this particular conflict, two submitters classify the gene-disease association as limited, one as moderate, and one as strong. The conflict is resolved to moderate or above.<br /><br />Overall, the document highlights the process of resolving conflicts in genetic variant classifications within the GenCC database and provides examples of resolved conflicts for further understanding.

Asset Subtitle

Presenting Author - Marina T. DiStefano, PhD, FACMG; Co-Author - Joanna Amberger, PhD; Co-Author - Christina Austin-Tse, PhD; Co-Author - Marie Balzotti, MS; Co-Author - Mutaz Amin, PhD; Co-Author - Jonathan S. Berg, MD PhD; Co-Author - Carol Bocchini, PhD; Co-Author - Elspeth Bruford, PhD; Co-Author - Fowzan S. Alkuraya, MD, FACMG; Co-Author - Alison J. Coffey, PhD; Co-Author - Heather Collins, PhD; Co-Author - Fiona Cunningham, PhD; Co-Author - Helen Firth, PhD; Co-Author - David R. Fitzpatrick, PhD; Co-Author - Yaron Einhorn, MS; Co-Author - Jennifer Goldstein, PhD, CGC; Co-Author - Ada Hamosh, MD, MPH; Co-Author - Sarah E. Leigh, PhD; Co-Author - Ivone US. Leong, PhD; Co-Author - Christa L. Martin; Co-Author - Ellen M. McDonagh, PhD; Co-Author - Arina Puzriakova, MS; Co-Author - Ana Rath, PhD; Co-Author - Angharad Roberts, MD; Co-Author - Kelly Radtke, PhD; Co-Author - Erin M. Ramos, PhD; Co-Author - Erin Riggs, MS, CGC; Co-Author - Charlotte Rodwell, PhD; Co-Author - Katrin Sangkuhl, PhD; Co-Author - Catherine Snow, PhD; Co-Author - Zornitza Stark, MD; Co-Author - Jackie Tahiliani, PhD; Co-Author - James S. Ware, MD; Co-Author - Eleanor Williams, PhD; Co-Author - Caroline Wright, PhD; Co-Author - Michael Yates, MD; Co-Author - Phillip Weller, MS; Co-Author - Heidi L. Rehm, PhD;

Meta Tag

Databases

Genotype-Phenotype Correlations

Identification of Disease Genes

Co-Author Joanna Amberger, PhD

Co-Author Christina Austin-Tse, PhD

Co-Author Marie Balzotti, MS

Co-Author Mutaz Amin, PhD

Co-Author Jonathan S. Berg, MD PhD

Co-Author Carol Bocchini, PhD

Co-Author Elspeth Bruford, PhD

Co-Author Fowzan S. Alkuraya, MD, FACMG

Co-Author Alison J. Coffey, PhD

Co-Author Heather Collins, PhD

Co-Author Fiona Cunningham, PhD

Co-Author Helen Firth, PhD

Co-Author David R. Fitzpatrick, PhD

Co-Author Yaron Einhorn, MS

Co-Author Jennifer Goldstein, PhD, CGC

Co-Author Ada Hamosh, MD, MPH

Co-Author Sarah E. Leigh, PhD

Co-Author Ivone US. Leong, PhD

Co-Author Christa L. Martin

Co-Author Ellen M. McDonagh, PhD

Co-Author Arina Puzriakova, MS

Co-Author Ana Rath, PhD

Co-Author Angharad Roberts, MD

Co-Author Kelly Radtke, PhD

Co-Author Erin M. Ramos, PhD

Co-Author Erin Riggs, MS, CGC

Co-Author Charlotte Rodwell, PhD

Co-Author Katrin Sangkuhl, PhD

Co-Author Catherine Snow, PhD

Co-Author Zornitza Stark, MD

Co-Author Jackie Tahiliani, PhD

Co-Author James S. Ware, MD

Co-Author Eleanor Williams, PhD

Co-Author Caroline Wright, PhD

Co-Author Michael Yates, MD

Co-Author Phillip Weller, MS

Co-Author Heidi L. Rehm, PhD

Presenting Author Marina T. DiStefano, PhD, FACMG

Keywords

GenCC

genetic variant classifications

database

conflicts

assertions

genes

diseases

classification level

resolved conflicts

complex conflict